ClinVar Miner

Variants studied for Diamond-Blackfan anemia 10

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
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Gene type:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign total
23 7 50 71 7 154

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
RPS26 21 7 50 71 7 152
IKZF4, LOC116268441, RPS26 1 0 0 0 0 1
IKZF4, RPS26, SUOX 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 20
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 15 2 29 65 2 113
Fulgent Genetics, Fulgent Genetics 0 0 12 11 1 24
Illumina Laboratory Services, Illumina 0 0 4 8 7 19
Revvity Omics, Revvity 1 5 4 0 0 10
OMIM 8 0 0 0 0 8
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 2 0 1 0 0 3
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 1 1 2
Baylor Genetics 1 0 1 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 2 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 2 0 0 2
BloodGenetics 1 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 0 0 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 1 0 0 0 0 1
Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology 0 1 0 0 0 1
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 1 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 1 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 0 0 0 1

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